Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
CATSPER4	378807	broad.mit.edu	37	1	26524882	26524882	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr1:26524882G>A	uc010oez.2	+	5	784	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	CATSPER4_uc010oey.1_Missense_Mutation_p.G84S|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	262					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAGGACGGCTGGGTGGA	0.557												
RSU1	6251	broad.mit.edu	37	10	16794981	16794981	+	Missense_Mutation	SNP	T	T	C	rs149666298	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:16794981T>C	uc001iok.3	-	4	721	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	RSU1_uc001iol.3_Missense_Mutation_p.Y140C|RSU1_uc001iom.3_Missense_Mutation_p.Y87C|RSU1_uc001ion.3_Missense_Mutation_p.Y140C	NM_152724	NP_689937	Q15404	RSU1_HUMAN	Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.	140					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTCACTTAGATAGAGTGCACG	0.398												
MAP3K8	1326	broad.mit.edu	37	10	30739369	30739369	+	Silent	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:30739369A>G	uc001ivi.2	+	4	1299	c.687A>G	c.(685-687)gaA>gaG	p.E229E	MAP3K8_uc009xlf.2_Silent_p.E229E|MAP3K8_uc001ivj.2_Silent_p.E229E	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	229	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAGAATTTGAAATTATTTGGG	0.418												
ZNF37A	7587	broad.mit.edu	37	10	38407378	38407378	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:38407378C>A	uc001izk.3	+	7	2129	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	ZNF37A_uc001izl.3_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.3_Missense_Mutation_p.H433Q	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAAGAACTCACACAGGTGAGA	0.383												
ANK3	288	broad.mit.edu	37	10	61831909	61831909	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:61831909G>A	uc001jky.3	-	36	9068	c.8730C>T	c.(8728-8730)aaC>aaT	p.N2910N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2910					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGAGAGCCGTTTGTTAACA	0.378												
OR4C15	81309	broad.mit.edu	37	11	55322828	55322828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:55322828A>T	uc010rig.2	+	0	1046	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAGTAAAACAGGCCATGAGG	0.328										HNSCC(20;0.049)		
KRTAP5-10	387273	broad.mit.edu	37	11	71277242	71277242	+	Nonstop_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:71277242A>G	uc001oqt.1	+	0	634	c.609A>G	c.(607-609)tgA>tgG	p.*203W		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	0						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTAAGATCTGAGGCTCTGAAC	0.547												
BIRC2	329	broad.mit.edu	37	11	102220791	102220791	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:102220791G>T	uc001pgy.3	+	1	1605	c.206G>T	c.(205-207)cGt>cTt	p.R69L	BIRC2_uc010ruq.2_Missense_Mutation_p.R20L|BIRC2_uc010rur.2_Missense_Mutation_p.R69L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	69					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGTCTTGCTCGTGCTGGTTTT	0.423												
KLRC2	3823	broad.mit.edu	37	12	10573038	10573038	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10573038T>C	uc001qyi.1	-	0	157	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_uc001qyf.3_Missense_Mutation_p.I38V|KLRC2_uc021qvc.1_Missense_Mutation_p.I38V|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.I38V	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	38					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTGGAATATTTCCTGTTCG	0.378												
KLRC2	3823	broad.mit.edu	37	12	10588474	10588474	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10588474T>C	uc001qyh.3	-	0	119	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	38					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTGGAATATTTCCTGTTCG	0.383												
TMCC3	57458	broad.mit.edu	37	12	94975965	94975965	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:94975965A>G	uc001tdj.2	-	1	546	c.428T>C	c.(427-429)aTc>aCc	p.I143T	TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	143						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATTCTGCTCGATCTCTCTGAG	0.458												
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:113515335T>G	uc001tuk.1	+	1	702	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622												
SACS	26278	broad.mit.edu	37	13	23928995	23928995	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr13:23928995A>G	uc001uon.2	-	7	2345	c.1756T>C	c.(1756-1758)Tac>Cac	p.Y586H	SACS_uc001uoo.2_Missense_Mutation_p.Y439H|SACS_uc001uop.1_Missense_Mutation_p.Y373H|SACS_uc001uoq.1_Missense_Mutation_p.Y439H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	586					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTTTGTGTATTCTAAATTT	0.468												
UBE3A	7337	broad.mit.edu	37	15	25616938	25616938	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr15:25616938T>C	uc001zaq.3	-	6	1152	c.392A>G	c.(391-393)gAg>gGg	p.E131G	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.E108G|UBE3A_uc001zas.3_Missense_Mutation_p.E128G|UBE3A_uc001zat.3_Missense_Mutation_p.E108G	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	131					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATATACCTTCTCTTCTGTTAA	0.308												
NPIPA1	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562												
MIS12	79003	broad.mit.edu	37	17	5392643	5392643	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:5392643A>G	uc002gce.3	+	2	1014	c.461A>G	c.(460-462)cAg>cGg	p.Q154R	MIS12_uc002gcd.3_Missense_Mutation_p.Q154R|MIS12_uc021tom.1_Missense_Mutation_p.Q154R	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.	154					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AAACTCAAACAGACGTTGACT	0.393												
MYH2	4620	broad.mit.edu	37	17	10430104	10430104	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:10430104G>A	uc010coi.3	-	29	4127	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N1333N|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1333					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498												
MALT1	10892	broad.mit.edu	37	18	56378165	56378165	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr18:56378165A>G	uc002lhm.1	+	6	1196	c.938A>G	c.(937-939)gAg>gGg	p.E313G	MALT1_uc002lhn.1_Intron	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	313					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGAACAGATGAGGCAGTGGAG	0.388			T	BIRC3	MALT							
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:12187443C>G	uc002mtb.2	+	3	1651	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413												
ZNF28	7576	broad.mit.edu	37	19	53303147	53303147	+	Missense_Mutation	SNP	C	C	T	rs146037495		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:53303147C>T	uc002qad.3	-	3	2108	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	ZNF28_uc002qac.3_Missense_Mutation_p.V597I|ZNF28_uc010eqe.3_Missense_Mutation_p.V597I|ZNF28_uc021uza.1_Missense_Mutation_p.V598I	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGGTATACGAGGGATGAC	0.423												
GFPT1	2673	broad.mit.edu	37	2	69583664	69583664	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:69583664T>C	uc002sfi.2	-	6	752	c.569A>G	c.(568-570)aAa>aGa	p.K190R	GFPT1_uc002sfh.3_Missense_Mutation_p.K190R	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	190	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATGAACACTTTTAAACACAAG	0.358												
SCRN3	79634	broad.mit.edu	37	2	175287615	175287615	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:175287615A>G	uc002uiq.3	+	5	855	c.757A>G	c.(757-759)Aat>Gat	p.N253D	SCRN3_uc010zen.2_Missense_Mutation_p.N246D|SCRN3_uc010zeo.2_Missense_Mutation_p.N51D|SCRN3_uc002uis.3_5'UTR	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	253					proteolysis		dipeptidase activity	p.G252R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTCTCTAGGAAATATAACTTT	0.318												
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr20:29625955A>T	uc010ztl.1	+	1	141	c.109A>T	c.(109-111)Aga>Tga	p.R37*	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338												
QRICH1	54870	broad.mit.edu	37	3	49094721	49094721	+	Silent	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr3:49094721A>G	uc010hkq.3	-	3	1208	c.912T>C	c.(910-912)ccT>ccC	p.P304P	QRICH1_uc003cvu.3_Silent_p.P304P|QRICH1_uc003cvv.3_Silent_p.P304P|QRICH1_uc021wxr.1_Silent_p.P241P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	304	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTCTCCTGTAGGGCTAGTAA	0.557												
N4BP2	55728	broad.mit.edu	37	4	40122570	40122570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:40122570G>T	uc003guy.4	+	8	3177	c.2839G>T	c.(2839-2841)Gga>Tga	p.G947*	N4BP2_uc010ifq.3_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.3_Nonsense_Mutation_p.G867*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	947						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCCAATCTAGGAAGTTCTGA	0.408												
LRRC66	339977	broad.mit.edu	37	4	52883712	52883712	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:52883712T>C	uc003gzi.3	-	0	75	c.68A>G	c.(67-69)aAt>aGt	p.N23S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	23						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATGCATTTGTCATTAT	0.299												
ENOPH1	58478	broad.mit.edu	37	4	83372300	83372300	+	Silent	SNP	G	G	A	rs143039236	by1000genomes	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:83372300G>A	uc003hmv.3	+	2	548	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ENOPH1_uc003hmx.3_Intron	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	97					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TAGATAATGTGTGCTGGCAGA	0.562												
ABCG2	9429	broad.mit.edu	37	4	89053011	89053011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:89053011T>C	uc003hrg.3	-	3	815	c.322A>G	c.(322-324)Ata>Gta	p.I108V	ABCG2_uc003hrh.3_Missense_Mutation_p.I108V|ABCG2_uc003hrf.3_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	108	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCTCCATTTATCAGAACATCT	0.378												
PCDHAC2	56136	broad.mit.edu	37	5	140263677	140263677	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140263677G>A	uc003lif.2	+	0	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S608S|PCDHAC2_uc003lid.3_Silent_p.S608S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682												
PCDHB14	56122	broad.mit.edu	37	5	140604583	140604583	+	Silent	SNP	C	C	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140604583C>A	uc003ljb.3	+	0	1506	c.1506C>A	c.(1504-1506)tcC>tcA	p.S502S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCTTGGTCTCCA	0.647												
CFB	717	broad.mit.edu	37	6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr6:31901955G>A	uc003nyf.3	+	5	992	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R243H|CFB_uc010jtk.3_Missense_Mutation_p.R111H|CFB_uc011doq.2_Missense_Mutation_p.R214H|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	259					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCCTGGGCCGTAAAATCCAA	0.547												
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:44684936delT	uc003tln.3	+	2	392	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577												
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:72398976A>G	uc003twk.2	+	3	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_uc003twj.3_Missense_Mutation_p.N94S|POM121_uc010lam.1_Missense_Mutation_p.N94S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	359	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468												
ZFAT	57623	broad.mit.edu	37	8	135533235	135533235	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr8:135533235T>G	uc003yup.3	-	12	3311	c.3125A>C	c.(3124-3126)aAg>aCg	p.K1042T	ZFAT_uc011ljj.2_Missense_Mutation_p.K161T|ZFAT_uc003yun.3_Missense_Mutation_p.K1030T|ZFAT_uc003yuo.3_Missense_Mutation_p.K1030T|ZFAT_uc010meh.3_Missense_Mutation_p.K1030T|ZFAT_uc010mej.3_Missense_Mutation_p.K980T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.K1030T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AACAGGACACTTCAAACCACC	0.408												
X97876	442421	broad.mit.edu	37	9	66499821	66499822	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:66499821_66499822delTA	uc004aee.1	+	0	631_632	c.631_632delTA	c.(631-633)tatfs	p.Y211fs	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GACCACCTTCTATACAGTTATG	0.604												
IARS	3376	broad.mit.edu	37	9	95004467	95004467	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:95004467G>C	uc004art.1	-	28	3403	c.3146C>G	c.(3145-3147)tCg>tGg	p.S1049W	IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1049					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACTTTATCCGATGGAGAAAC	0.388												
DCAF12L2	340578	broad.mit.edu	37	X	125298905	125298905	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chrX:125298905G>A	uc004euk.2	-	0	1176	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	335								p.R335C(3)|p.R335H(1)|p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627